A progressive KY myopathy could be caused by a missense pathogenic variant

Abstrakt

Congenital myopathies are caused by a pathogenic variant in manygenes, including the KY gene. So far, only truncating homozygous variants (frameshift, nonsense) have been described in this gene andin only five consanguineous families worldwide.

We report the first missense pathogenic variant in the KYgene in a patient (*2006) of Caucasian descent with clinical manifestations of congenitalmyopathy.

Klíčová slova

• KY gene
• abnormal tongue
• missense variant
• progressive myopathy